UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:NF2-EIF3D

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NF2-EIF3D
FusionPDB ID: 58722
FusionGDB2.0 ID: 58722
HgeneTgene
Gene symbol

NF2

EIF3D

Gene ID

4771

8664

Gene nameneurofibromin 2eukaryotic translation initiation factor 3 subunit D
SynonymsACN|BANF|SCHEIF3S7|eIF3-p66|eIF3-zeta
Cytomap

22q12.2

22q12.3

Type of geneprotein-codingprotein-coding
Descriptionmerlinmoesin-ezrin-radixin likemoesin-ezrin-radixin-like proteinmoesin-ezrin-radizin-like proteinneurofibromin 2 (bilateral acoustic neuroma)schwannomerlinschwannomineukaryotic translation initiation factor 3 subunit DeIF3 p66eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDatranslation initiation factor eIF3 p66 subunit
Modification date2020032220200313
UniProtAcc

P35240

O15371

Ensembl transtripts involved in fusion geneENST idsENST00000334961, ENST00000338641, 
ENST00000347330, ENST00000353887, 
ENST00000361166, ENST00000361452, 
ENST00000361676, ENST00000397789, 
ENST00000403435, ENST00000403999, 
ENST00000413209, 
ENST00000405442, 
ENST00000478547, ENST00000541106, 
ENST00000216190, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score15 X 11 X 7=115514 X 13 X 8=1456
# samples 1818
** MAII scorelog2(18/1155*10)=-2.68182403997375
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1456*10)=-3.01594154386902
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NF2 [Title/Abstract] AND EIF3D [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NF2(30000101)-EIF3D(36908649), # samples:3
Anticipated loss of major functional domain due to fusion event.NF2-EIF3D seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NF2-EIF3D seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NF2-EIF3D seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
NF2-EIF3D seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneNF2

GO:0008285

negative regulation of cell proliferation

12444102|20178741

HgeneNF2

GO:0022408

negative regulation of cell-cell adhesion

17210637

HgeneNF2

GO:0042532

negative regulation of tyrosine phosphorylation of STAT protein

12444102

HgeneNF2

GO:0046426

negative regulation of JAK-STAT cascade

12444102

TgeneEIF3D

GO:0002191

cap-dependent translational initiation

27462815

TgeneEIF3D

GO:0006413

translational initiation

17581632

TgeneEIF3D

GO:0075522

IRES-dependent viral translational initiation

9573242

TgeneEIF3D

GO:0075525

viral translational termination-reinitiation

21347434


check buttonFusion gene breakpoints across NF2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across EIF3D (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-V7-A7HQ-01ANF2chr22

30000101

-EIF3Dchr22

36908649

-
ChimerDB4BRCATCGA-V7-A7HQ-01ANF2chr22

30000101

+EIF3Dchr22

36908649

-


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000347330NF2chr2230000101+ENST00000216190EIF3Dchr2236908649-1135557362997211
ENST00000413209NF2chr2230000101+ENST00000216190EIF3Dchr2236908649-1135557362997211
ENST00000338641NF2chr2230000101+ENST00000216190EIF3Dchr2236908649-1133555360995211
ENST00000403435NF2chr2230000101+ENST00000216190EIF3Dchr2236908649-1103525330965211
ENST00000361452NF2chr2230000101+ENST00000216190EIF3Dchr2236908649-1074496301936211
ENST00000403999NF2chr2230000101+ENST00000216190EIF3Dchr2236908649-1058480285920211
ENST00000334961NF2chr2230000101+ENST00000216190EIF3Dchr2236908649-964386191826211
ENST00000353887NF2chr2230000101+ENST00000216190EIF3Dchr2236908649-944366171806211
ENST00000361166NF2chr2230000101+ENST00000216190EIF3Dchr2236908649-6921140554184
ENST00000397789NF2chr2230000101+ENST00000216190EIF3Dchr2236908649-6921140554184
ENST00000361676NF2chr2230000101+ENST00000216190EIF3Dchr2236908649-6921140554184

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000347330ENST00000216190NF2chr2230000101+EIF3Dchr2236908649-0.0053238880.9946761
ENST00000413209ENST00000216190NF2chr2230000101+EIF3Dchr2236908649-0.0053238880.9946761
ENST00000338641ENST00000216190NF2chr2230000101+EIF3Dchr2236908649-0.0054231560.9945768
ENST00000403435ENST00000216190NF2chr2230000101+EIF3Dchr2236908649-0.0048690580.995131
ENST00000361452ENST00000216190NF2chr2230000101+EIF3Dchr2236908649-0.0038483030.9961516
ENST00000403999ENST00000216190NF2chr2230000101+EIF3Dchr2236908649-0.0043279750.9956721
ENST00000334961ENST00000216190NF2chr2230000101+EIF3Dchr2236908649-0.0054322790.99456775
ENST00000353887ENST00000216190NF2chr2230000101+EIF3Dchr2236908649-0.0049337140.9950663
ENST00000361166ENST00000216190NF2chr2230000101+EIF3Dchr2236908649-0.0035280840.996472
ENST00000397789ENST00000216190NF2chr2230000101+EIF3Dchr2236908649-0.0035280840.996472
ENST00000361676ENST00000216190NF2chr2230000101+EIF3Dchr2236908649-0.0035280840.996472

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>58722_58722_1_NF2-EIF3D_NF2_chr22_30000101_ENST00000334961_EIF3D_chr22_36908649_ENST00000216190_length(amino acids)=211AA_BP=65
MCSNSRGAKGLRVQAVGREGPGPEPRAMAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEHCNGVDWRQKLDSQRGAVIATELKN
NSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVI

--------------------------------------------------------------

>58722_58722_2_NF2-EIF3D_NF2_chr22_30000101_ENST00000338641_EIF3D_chr22_36908649_ENST00000216190_length(amino acids)=211AA_BP=65
MCSNSRGAKGLRVQAVGREGPGPEPRAMAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEHCNGVDWRQKLDSQRGAVIATELKN
NSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVI

--------------------------------------------------------------

>58722_58722_3_NF2-EIF3D_NF2_chr22_30000101_ENST00000347330_EIF3D_chr22_36908649_ENST00000216190_length(amino acids)=211AA_BP=65
MCSNSRGAKGLRVQAVGREGPGPEPRAMAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEHCNGVDWRQKLDSQRGAVIATELKN
NSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVI

--------------------------------------------------------------

>58722_58722_4_NF2-EIF3D_NF2_chr22_30000101_ENST00000353887_EIF3D_chr22_36908649_ENST00000216190_length(amino acids)=211AA_BP=65
MCSNSRGAKGLRVQAVGREGPGPEPRAMAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEHCNGVDWRQKLDSQRGAVIATELKN
NSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVI

--------------------------------------------------------------

>58722_58722_5_NF2-EIF3D_NF2_chr22_30000101_ENST00000361166_EIF3D_chr22_36908649_ENST00000216190_length(amino acids)=184AA_BP=38
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEHCNGVDWRQKLDSQRGAVIATELKNNSYKLARWTCCALLAGSEYLKLGYVSR
YHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVIRVYSLPDGTFSSDEDEEEEEEEEEEEE

--------------------------------------------------------------

>58722_58722_6_NF2-EIF3D_NF2_chr22_30000101_ENST00000361452_EIF3D_chr22_36908649_ENST00000216190_length(amino acids)=211AA_BP=65
MCSNSRGAKGLRVQAVGREGPGPEPRAMAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEHCNGVDWRQKLDSQRGAVIATELKN
NSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVI

--------------------------------------------------------------

>58722_58722_7_NF2-EIF3D_NF2_chr22_30000101_ENST00000361676_EIF3D_chr22_36908649_ENST00000216190_length(amino acids)=184AA_BP=38
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEHCNGVDWRQKLDSQRGAVIATELKNNSYKLARWTCCALLAGSEYLKLGYVSR
YHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVIRVYSLPDGTFSSDEDEEEEEEEEEEEE

--------------------------------------------------------------

>58722_58722_8_NF2-EIF3D_NF2_chr22_30000101_ENST00000397789_EIF3D_chr22_36908649_ENST00000216190_length(amino acids)=184AA_BP=38
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEHCNGVDWRQKLDSQRGAVIATELKNNSYKLARWTCCALLAGSEYLKLGYVSR
YHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVIRVYSLPDGTFSSDEDEEEEEEEEEEEE

--------------------------------------------------------------

>58722_58722_9_NF2-EIF3D_NF2_chr22_30000101_ENST00000403435_EIF3D_chr22_36908649_ENST00000216190_length(amino acids)=211AA_BP=65
MCSNSRGAKGLRVQAVGREGPGPEPRAMAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEHCNGVDWRQKLDSQRGAVIATELKN
NSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVI

--------------------------------------------------------------

>58722_58722_10_NF2-EIF3D_NF2_chr22_30000101_ENST00000403999_EIF3D_chr22_36908649_ENST00000216190_length(amino acids)=211AA_BP=65
MCSNSRGAKGLRVQAVGREGPGPEPRAMAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEHCNGVDWRQKLDSQRGAVIATELKN
NSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVI

--------------------------------------------------------------

>58722_58722_11_NF2-EIF3D_NF2_chr22_30000101_ENST00000413209_EIF3D_chr22_36908649_ENST00000216190_length(amino acids)=211AA_BP=65
MCSNSRGAKGLRVQAVGREGPGPEPRAMAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEHCNGVDWRQKLDSQRGAVIATELKN
NSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVI

--------------------------------------------------------------

Top

Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr22:30000101/chr22:36908649)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NF2

P35240

EIF3D

O15371

FUNCTION: Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:20159598, ECO:0000269|PubMed:20178741, ECO:0000269|PubMed:21167305}.FUNCTION: mRNA cap-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, a complex required for several steps in the initiation of protein synthesis of a specialized repertoire of mRNAs (PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:18599441, PubMed:25849773). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). In the eIF-3 complex, EIF3D specifically recognizes and binds the 7-methylguanosine cap of a subset of mRNAs (PubMed:27462815). {ECO:0000269|PubMed:18599441, ECO:0000269|PubMed:25849773, ECO:0000269|PubMed:27462815}.; FUNCTION: (Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426). {ECO:0000269|PubMed:18056426}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneEIF3Dchr22:30000101chr22:36908649ENST000002161901115530_547402.0549.0Compositional biasNote=Asp/Glu-rich (highly acidic)
TgeneEIF3Dchr22:30000101chr22:36908649ENST000004054421115530_547402.0549.0Compositional biasNote=Asp/Glu-rich (highly acidic)

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNF2chr22:30000101chr22:36908649ENST00000334961+115327_46538.0451.0Compositional biasNote=Glu-rich
HgeneNF2chr22:30000101chr22:36908649ENST00000338641+116327_46538.0596.0Compositional biasNote=Glu-rich
HgeneNF2chr22:30000101chr22:36908649ENST00000347330+110327_46538.01312.6666666666667Compositional biasNote=Glu-rich
HgeneNF2chr22:30000101chr22:36908649ENST00000353887+115327_46538.0406.0Compositional biasNote=Glu-rich
HgeneNF2chr22:30000101chr22:36908649ENST00000361166+117327_46538.0571.3333333333334Compositional biasNote=Glu-rich
HgeneNF2chr22:30000101chr22:36908649ENST00000361452+116327_46538.01665.6666666666667Compositional biasNote=Glu-rich
HgeneNF2chr22:30000101chr22:36908649ENST00000361676+116327_46538.0531.0Compositional biasNote=Glu-rich
HgeneNF2chr22:30000101chr22:36908649ENST00000397789+117327_46538.0573.0Compositional biasNote=Glu-rich
HgeneNF2chr22:30000101chr22:36908649ENST00000403435+117327_46538.0541.0Compositional biasNote=Glu-rich
HgeneNF2chr22:30000101chr22:36908649ENST00000403999+116327_46538.0591.0Compositional biasNote=Glu-rich
HgeneNF2chr22:30000101chr22:36908649ENST00000413209+15327_46538.0166.0Compositional biasNote=Glu-rich
HgeneNF2chr22:30000101chr22:36908649ENST00000334961+11522_31138.0451.0DomainFERM
HgeneNF2chr22:30000101chr22:36908649ENST00000338641+11622_31138.0596.0DomainFERM
HgeneNF2chr22:30000101chr22:36908649ENST00000347330+11022_31138.01312.6666666666667DomainFERM
HgeneNF2chr22:30000101chr22:36908649ENST00000353887+11522_31138.0406.0DomainFERM
HgeneNF2chr22:30000101chr22:36908649ENST00000361166+11722_31138.0571.3333333333334DomainFERM
HgeneNF2chr22:30000101chr22:36908649ENST00000361452+11622_31138.01665.6666666666667DomainFERM
HgeneNF2chr22:30000101chr22:36908649ENST00000361676+11622_31138.0531.0DomainFERM
HgeneNF2chr22:30000101chr22:36908649ENST00000397789+11722_31138.0573.0DomainFERM
HgeneNF2chr22:30000101chr22:36908649ENST00000403435+11722_31138.0541.0DomainFERM
HgeneNF2chr22:30000101chr22:36908649ENST00000403999+11622_31138.0591.0DomainFERM
HgeneNF2chr22:30000101chr22:36908649ENST00000413209+1522_31138.0166.0DomainFERM
TgeneEIF3Dchr22:30000101chr22:36908649ENST000002161901115285_299402.0549.0RegionRNA gate
TgeneEIF3Dchr22:30000101chr22:36908649ENST000004054421115285_299402.0549.0RegionRNA gate


Top

Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
NF2
EIF3D


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to NF2-EIF3D


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to NF2-EIF3D


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource